Case Report: Creutzfeldt-Jakob disease and diagnosis challenges - case report and evidence synthesis

Sep 30, 2026

Uploaded by Miles

Creutzfeldt-Jakob disease (CJD) is a lethal prion neurodegenerative disorder with heterogeneous clinical presentations, making diagnosis uncertain. This paper examines key CJD diagnostic challenges, especially differential diagnosis and diagnostic delays. A reported patient was initially misclassified before CJD suspicion, and a systematic review of CJD case reports in Medline and Embase (to May 2023) synthesized evidence focused on timely and differential diagnosis.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages18

Reading Time45 min

AccessFree to download

Introduction

Methods

Results

Conclusion

Keywords

CASE REPORT Case Report: Creutzfeldt-Jakob disease and diagnosis challenges: case report and evidence synthesis [version 1; peer review: 2 approved with reservations] Virgilio E Failoc Rojas 1, Yiro Yazawa-Ballena2, Gustavo Alvarado-Moreno2, Alba Navarro-Flores3,4, Carlos Alva-Diaz5-7, Kevin Pacheco-Barrios 8 1Universidad Cesar Vallejo, Piura, Piura, 20001, Peru 2Internal medicine, Hospital Regional Lambayeque, Lambayeque, Lambayeque, 14011, Peru 3International Max Planck Research School for Translational Psychiatry (IMPRS-TP), Munich, Germany, 80804, Germany 4Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany 5Servicio de Neurología, Departamento de Medicina y Oficina de Apoyo a la Docencia e Investigación (OADI), Hospital Daniel Alcides Carrión, Callao, Peru 6Grupo de Investigación NEMECS: Neurociencias, Metabolismo, Efectividad Clínica y Sanitaria, Universidad Cientifica del Sur, Lima, Peru 7Universidad Cientifica del Sur, Miraflores, Lima, 15067, Peru 8Universidad San Ignacio de Loyola, Lima District, Lima Region, 150114, Peru v1 First published: 11 Apr 2025, 14:425 [https://doi.org/10.12688/f1000research.150498.1](https://doi.org/10.12688/f1000research.150498.1) [Latest published:](Latest published: 09 Dec 2025)[ 09 Dec 2025](Latest published: 09 Dec 2025), 14:425 [https://doi.org/10.12688/f1000research.150498.2](https://doi.org/10.12688/f1000research.150498.2) Abstract Introduction Prion diseases are mortal neurodegenerative disorders, which include Creutzfeldt-Jakob disease (CJD) . Due to its heterogenous clinical presentation diagnosis uncertainties are common. In this paper we explore CJD diagnostic challenges focusing on differential diagnosis and diagnostic delays. Methods We report a case of a patient who was misclassified and evaluated by several medical specialties before the CJD suspicion. A systematic review of the literature of the CJD case reports focused on the timely and differential diagnosis was carried out in Medline and Embase until May 2023. Open Peer Review | Approval Status | | | --- | --- | | 1 | 2 | | version 2
(revision)
09 Dec 2025
version 1
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11 Apr 2025 | | 1. Anna Ladogana , Istituto Superiore di Sanità, Rome, Italy 2. Shi-Lin Yang, Fudan University, Shanghai, China Any reports and responses or comments on the article can be found at the end of the article. Results Patient with diagnosis was made due to the form of presentation and clinical evolution, neuroimaging and the presence of protein 14-3-3. In systematic review, fifteen articles were selected, who reported 31 cases of CJD with problems in the timely diagnosis and incorrect initial diagnosis, the main initial differential diagnoses were psychiatry exacerbation, myelopathy, epilepsy, stroke, parkinsonism, cerebellarataxia and autoimmune encephalitis. The most common clinical onset was psychobehavioral disturbances (apathy, confusion and sleep disturbance), extrapyramidal signs and cognitive impairment. The diagnosis delay was from one to eighteen months. Conclusion A discussion of the case report and the diagnostic challenges reported in the literature was made. Patients can present a wide range of symptoms. It is recommended to consider CJD for the differential diagnosis in patients with behavioral symptoms, and cognitive impairment. Keywords Creutzfeldt-Jakob syndrome; Prion diseases; differential diagnosis; behavioral symptoms; 14-3-3 Proteins; Peru Corresponding author: Kevin Pacheco-Barrios ([kevin.pacheco.barrios@gmail.com](kevin.pacheco.barrios@gmail.com)) Author roles: Failoc Rojas VE: Conceptualization, Data Curation, Investigation, Methodology, Writing – Original Draft Preparation, Writing – Review & Editing; Yazawa-Ballena Y: Conceptualization, Investigation, Writing – Original Draft Preparation, Writing – Review & Editing; Alvarado-Moreno G: Conceptualization, Inve

FAQs

What makes Creutzfeldt-Jakob disease diagnosis difficult in practice?

CJD shows heterogeneous clinical presentations, so early findings can lead to uncertainty and misclassification. The paper emphasizes frequent differential-diagnosis problems and diagnostic delays.

How was the evidence synthesized for diagnostic challenges?

The study reports a misclassified clinical case and conducts a systematic review of CJD case reports in Medline and Embase up to May 2023, focusing on timely and differential diagnosis.

What differential diagnoses were commonly mistaken for CJD?

The main initial differential diagnoses included psychiatric exacerbation, myelopathy, epilepsy, stroke, parkinsonism, cerebellar ataxia, and autoimmune encephalitis.

Sep 30, 2026

Uploaded by Miles